A diagnosis of Sanfilippo syndrome is tragic for families.
Children who have this genetic error of metabolism show no signs at birth. As the disease progresses, they slowly lose the ability to speak, walk, and eat.
There's no cure for Sanfilippo syndrome. The current life expectancy is 10 to 20 years.
Elena's Sanfilippo Syndrome Diagnosis
Dr. Marta Cienfuegos Vazquez from Valdesoto, Spain was as prepared as a parent can be.
Doctors diagnosed her daughter Elena — now 12 — with Sanfilippo when she was two years old, before symptoms arose.
“Her doctor found a rare shape in her vertebrae that was very typical of Sanfilippo,” says Dr. Vázquez.
Testing confirmed the diagnosis.
“I tried to learn everything I could related to her illness,” says Dr. Vázquez, a pulmonologist.
Finding Hope at UPMC Children's Hospital of Pittsburgh
In June 2008, at a global health conference in Vancouver, B.C., Dr. Vázquez met Maria L. Escolar, MD.
Dr. Escolar — an internationally recognized expert in rare neurodegenerative disorders — started a program devoted to these disorders in 2000.
In November, Dr. Vázquez brought Elena to the United States to meet Dr. Escolar.
Says Dr. Escolar:
“Children with Sanfilippo — as they start losing language — become frustrated, because they remember being able to say things that they can’t anymore. They start having problems sleeping, which makes them even more irritable. And they develop cognitive and behavioral issues.
“But Elena’s behaviors were manageable, and her symptoms seemed to progress more slowly. Her mom wanted to learn what we have found in our studies — about the progression and how to deal with it.”
A Clinical Trial for Children with Sanfilippo Syndrome
In 2011, Dr. Escolar brought the UPMC Children’s Center for NeuroGenomics (CCNG) to UPMC Children’s Hospital of Pittsburgh.
Soon after, Alexion — a pharmaceutical company — asked Dr. Escolar to be the principal investigator for a clinical trial. The study was of the first specific therapy for Sanfilippo syndrome and she thought of Elena right away.
“I contacted Marta and said that we’re about to start a trial in the U.S., and that there are only eight slots. The family got on a plane on March 13, 2015, came to Children’s, and stayed for a year,” says Dr. Escolar.
Children with Sanfilippo syndrome lack an enzyme that breaks down long chains of molecules that build connective tissues. The molecules build up in the cells instead of break down, causing progressive brain damage.
Elena and the other members of the study received a replacement enzyme intravenously every other week for 26 weeks.
The study — a first-in-human trial designed to obtain data on safety and efficacy — is still in progress. It's too early to draw conclusions. But, Dr. Escolar does note she and Dr. Vázquez noticed that Elena’s illness seemed to stabilize after a couple of months.
“Normally, with Sanfilippo, it’s a sharp fall-off in language. But Elena was able to keep going for a while. The treatment stabilized her in some areas,” says Dr. Escolar.
In July 2016, Elena and her family returned to Spain after spending a year in Pittsburgh. Dr. Escolar worked with Alexion to open a site in Spain so Elena could continue the therapy.
Dr. Escolar is actively working with that site to create protocols around the study.
Elena Enjoys Walks on the Beach in Spain
Says Dr. Vázquez:
“Dr. Escolar is not only one of the foremost experts in this kind of illness, but she's a very special doctor. She loves her specialty and loves her patients.
“I'll keep her in my heart the rest of my life for the opportunity she and her team at Children’s gave Elena.”
Dr. Escolar says:
“A lot of doctors think that if a disease is fatal, what's the point of treating the patients. But each life is so extremely valuable. And when parents are dealing with kids with these problems, their lives have a different meaning.
“People imagine that if you have a child like that, your life is suffering and it’s awful, and it’s not. The parents enjoy the child and the child enjoys the parent.”
Back home in Valdesoto — a small village found between mountains and the sea — Elena enjoys walking on the beach. She also likes therapies involving music, horses, and dogs.
“If Elena smiles I forget all my unhappy moments,” says Dr. Vázquez. “I always say that she has ‘superpowers’ because her smile gives us strength, and makes us very happy every day.”